1. Genes and Genomic Entities
  2. CEP290

CEP290

centrosomal protein 290
OMIM: 610142, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels
Red CEP290 in Familial Neural Tube Defects


Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Red CEP290 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Amber CEP290 in Severe early-onset obesity


Level 2: Endocrinology
Version 5.21
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Obesity
  • ?Bardet-Biedl syndrome 14, OMIM:615991
Red CEP290 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Red CEP290 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.24

review Not set
Sources
  • Emory Genetics Laboratory
Red CEP290 in Limb disorders


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Bardet-Biedl syndrome 14, 615991
    • Joubert syndrome 5, 610188
    • Leber congenital amaurosis 10
    • Meckel syndrome 4,611134
    • Senior-Loken syndrome 6,610189
    • Polydactyly
    No list CEP290 in Ductal plate malformation


    Version 1.31

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Meckel syndrome 4 (611134)
    • Joubert syndrome 5 (610188)
    • ?Bardet-Biedl syndrome 14 (615991)
    Tags
    • curated_removed
    Red CEP290 in Bardet Biedl syndrome


    Level 2: Ophthalmology
    Version 2.9
    Latest signed off version: v2.0 (30 Nov 2022)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Senior-Loken syndrome 6, 610189
    • Leber congenital amaurosis 10, 611755
    • Joubert syndrome 5, 610188
    • Bardet-Biedl syndrome 14, 615991
    • Meckel syndrome 4, 611134
    Amber CEP290 in Cystic kidney disease


    Level 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease

    		•  review Not set
    Sources
    • Expert Review Amber
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red CEP290 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.124

    		review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red CEP290 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.51

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Other
    Phenotypes
    • Joubert syndrome 5
    Red CEP290 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Green CEP290 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Meckel syndrome 4 611134
    • Senior-Loken syndrome 6 610189
    • Joubert syndrome 5 610188
    • Bardet-Biedl syndrome 14 615991
    • Leber congenital amaurosis 10
    Green CEP290 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME TYPE 5
    • LEBER CONGENITAL AMAUROSIS TYPE 10
    • SENIOR-LOKEN SYNDROME TYPE 6
    • BARDET-BIEDL SYNDROME TYPE 14
    • MECKEL SYNDROME TYPE 4
    Green CEP290 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BARDET-BIEDL SYNDROME TYPE 14 209900
    • LEBER CONGENITAL AMAUROSIS TYPE 10 611755
    • JOUBERT SYNDROME TYPE 5 610188
    • SENIOR-LOKEN SYNDROME TYPE 6 610189
    • MECKEL SYNDROME TYPE 4 611134
    Green CEP290 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 5, 610188Senior-Loken syndrome 6, 610189Leber congenital amaurosis 10, 611755Meckel syndrome 4, 611134Bardet-Biedl syndrome 14, 209900
    • BARDET-BIEDL SYNDROME TYPE 14 (BBS14)
    Green CEP290 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Achromatopsia, Cone, and Cone-rod Dystrophy
    • Bardet-Biedl syndrome 14 (AR)
    • Joubert syndrome 5 (AR)
    • Leber congenital amaurosis 10 (AR)
    • Meckel syndrome type 4 (AR)
    • Senior-Loken syndrome 6 (AR)
    • Leber congenital amaurosis type 10
    • Joubert syndrome 5, 610188
    • Senior-Loken syndrome 6, 610189
    • Leber congenital amaurosis 10, 611755
    • Meckel syndrome 4, 611134
    • Bardet-Biedl syndrome 14, 209900
    • Leber Congenital Amaurosis
    • Eye Disorders
    Green CEP290 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Senior-Loken syndrome 6, 610189
    • Leber congenital amaurosis 10, 611755
    • Joubert syndrome 5, 610188
    • Meckel syndrome 4, 611134
    • ?Bardet-Biedl syndrome 14, 615991
    Green CEP290 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • Other
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • 610189
    • 611134
    • 611755
    • 610188
    • Joubert syndrome 5
    • Meckel syndrome 4
    • Senior-Loken syndrome 6
    • Joubert syndrome with oculorenal defect
    • Meckel syndrome
    • Senior-Loken syndrome
    Green CEP290 in Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • 610189
    • Meckel syndrome 4
    • Senior-Loken syndrome
    • 611755
    • Joubert syndrome 5
    • Joubert syndrome with oculorenal defect
    • 610188
    • Senior-Loken syndrome 6
    • 611134
    • Meckel syndrome
    Green CEP290 in Neurological ciliopathies


    Level 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • 610189
    • Meckel syndrome 4
    • Senior-Loken syndrome
    • 611755
    • Joubert syndrome 5
    • Joubert syndrome with oculorenal defect
    • 610188
    • Senior-Loken syndrome 6
    • 611134
    • Meckel syndrome
    Green CEP290 in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • 610189
    • Meckel syndrome 4
    • Senior-Loken syndrome
    • 611755
    • Joubert syndrome 5
    • Joubert syndrome with oculorenal defect
    • 610188
    • Senior-Loken syndrome 6
    • 611134
    • Meckel syndrome
    Red CEP290 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • 611755
    • 610189
    • Senior-Loken syndrome
    • 611134
    • 610188
    • Joubert syndrome 5
    • Senior-Loken syndrome 6
    • Meckel syndrome
    • Meckel syndrome 4
    • Joubert syndrome with oculorenal defect